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Expanding the clinical spectrum of 19p13.3 microduplication syndrome: a case report highlighting nephrotic syndrome and literature review.
BMC Pediatr
January 2025
Pediatric Internal Medicine, Yantai Yuhuangding Hospital, No.20 Yuhuangding East Road, Zhifu District, Yantai City, Shandong, 264000, China.
Background: Common clinical findings in patients with 19p13.3 duplication include intrauterine growth restriction, intellectual disability, developmental delay, microcephaly, and distinctive facial features. In this study, we report the case of a patient with 19p13.
View Article and Find Full Text PDFIdentification of strengths and weaknesses of the healthcare system for persons living with rare diseases in Catalonia (Spain), and recommendations to improve its comprehensive attention: the "acERca las enfermedades raras" project.
Orphanet J Rare Dis
January 2025
Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Sciences in Medicine, Institut de Recerca Sant Joan de Déu, Únicas SJD Center, Hospital Sant Joan de Déu, Barcelona, Spain.
Background: Rare diseases (RDs) are a heterogeneous group of complex and low-prevalence conditions in which the time to establish a definitive diagnosis is often too long. In addition, for most RDs, few to no treatments are available and it is often difficult to find a specialized care team.
Objectives: The project "acERca las enfermedades raras" (in English: "bringing RDs closer") is an initiative primary designed to generate a consensus by a multidisciplinary group of experts to detect the strengths and weaknesses in the public healthcare system concerning the comprehensive care of persons living with a RD (PLWRD) in the region of Catalonia, Spain, where a Network of Clinical Expert Units (Xarxa d'Unitats de Expertesa Clínica or XUEC) was created and is being implemented since 2015.
Comparison of the epidemiological characteristics of mycoplasma pneumoniae infections among children during two epidemics in Wuhan from 2018 to 2024.
BMC Pediatr
January 2025
Department of Pulmonary and Critical Care Medicine, Renmin Hospital of Wuhan University Wuhan, Hubei, China.
Background: Mycoplasma pneumoniae (M pneumoniae, MP) is a common pathogen causing respiratory tract infections, particularly in children. In 2023, a resurgence of MP epidemics was observed in Wuhan, Hubei Province, China. This study aims to examine the epidemiological trends and clinical characteristics of MP infections among children in Wuhan from 2018 to 2024, providing valuable scientific evidence to guide local prevention strategies.
View Article and Find Full Text PDFEarly antibiotics administration reduces mortality in sepsis patients in tertiary care hospital.
BMC Infect Dis
January 2025
Princess Srisavangavadhana College of Medicine, Chulabhorn Royal Academy, Bangkok, Thailand.
Introduction: Early antibiotic administration is one of the core treatments of sepsis which associated with reduced mortality rate. However, the appropriate timing of antibiotics remains a controversial issue, especially in patients without septic shock. Here, we reported the outcomes of early antibiotic administration within one hour from the time of infection suspicion in a tertiary care hospital.
View Article and Find Full Text PDFArtificial intelligence methods applied to longitudinal data from electronic health records for prediction of cancer: a scoping review.
BMC Med Res Methodol
January 2025
Leeds Institute of Clinical Trials Research, University of Leeds, Clarendon Way, Leeds, LS2 9NL, UK.
Background: Early detection and diagnosis of cancer are vital to improving outcomes for patients. Artificial intelligence (AI) models have shown promise in the early detection and diagnosis of cancer, but there is limited evidence on methods that fully exploit the longitudinal data stored within electronic health records (EHRs). This review aims to summarise methods currently utilised for prediction of cancer from longitudinal data and provides recommendations on how such models should be developed.
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